chr13-69707678-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020866.3(KLHL1):c.2134A>G(p.Thr712Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020866.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLHL1 | NM_020866.3 | c.2134A>G | p.Thr712Ala | missense_variant | 10/11 | ENST00000377844.9 | |
KLHL1 | NM_001286725.2 | c.1951A>G | p.Thr651Ala | missense_variant | 9/10 | ||
KLHL1 | XM_017020678.3 | c.1615A>G | p.Thr539Ala | missense_variant | 10/11 | ||
KLHL1 | XM_017020679.2 | c.1465A>G | p.Thr489Ala | missense_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLHL1 | ENST00000377844.9 | c.2134A>G | p.Thr712Ala | missense_variant | 10/11 | 1 | NM_020866.3 | P1 | |
KLHL1 | ENST00000545028.2 | c.1951A>G | p.Thr651Ala | missense_variant | 9/10 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2022 | KLHL1: PM2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.